gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5916622 (AFR)
Genomes Max Group AF
0.5916622 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67406411C>T , CM000676.2:g.67406411C>T | GRCh38 |
| NC_000014.8:g.67873128C>T , CM000676.1:g.67873128C>T | GRCh37 |
| NC_000014.7:g.66942881C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216446.9:c.42+5607G>A (PLEK2) MANE Select | ENSP00000216446.4:n.42+5607G>A | |
| ENST00000216446.8:c.42+5607G>A (PLEK2) | ENSP00000216446.4:n.42+5607G>A | |
| ENST00000553387.1:c.42+5607G>A (PLEK2) | ENSP00000451023.1:n.42+5607G>A | |
| ENST00000557388.1:n.150+5607G>A (PLEK2) | ||
| NM_016445.1:c.42+5607G>A (PLEK2) | NP_057529.1:n.42+5607G>A | |
| XM_011536644.1:c.42+5607G>A (PLEK2) | XP_011534946.1:n.42+5607G>A | |
| NM_016445.2:c.42+5607G>A (PLEK2) | NP_057529.1:n.42+5607G>A | |
| XM_017020925.2:c.1313-328784C>T (GPHN) | XP_016876414.1:n.1313-328784C>T | |
| NM_016445.3:c.42+5607G>A (PLEK2) MANE Select | NP_057529.1:n.42+5607G>A |